Research and Advocacy for Newborn Screening for Mucopolysaccharidosis II (MPS II/Hunter Syndrome)

Newborn Screening SPOTlight Podcast

Today, we are joined by Dr. Zhanzhi Hu (aka Mike) who is the co-founder and President of Project GUARDIAN, a nonprofit organization with the mission of advancing genomics-based newborn screening where they have a mission of genome sequencing 100,000 babies in New York City. His dedication and motivation to ensuring all babies have the best chance to live a healthy life stem from his own experience as a parent of two children with a rare disorder called MPS II and also known as Hunter Syndrome. He is an ardent advocate for newborn screening and works tirelessly to bridge the gap between advanced technologies and the critical need for the expansion of the newborn screening public health program. Mike is also an Adjunct Associate Researcher at Columbia University where he conducts newborn screening-related research. Dr. Hu received his Ph.D. degree in Molecular Genetics and Microbiology from the University of Texas at Austin and his B.S. degree in Cell Biology and Genetics from Peking University. He is currently on the Steering Committee and chair of the researcher needs workgroup at NBSTRN. He will share his perspectives as a researcher, parent, and advocate for NBS research as well as his efforts collectively with other key stakeholders in the research, clinical, and advocacy realm in helping to get MPS II added to the RUSP. Be inspired by his story of determination, perseverance, and purpose in advancing NBS research.

Interview Questions with Dr. Hu:

1. Hu, you are the co-founder and President of Project GUARDIAN, a new nonprofit organization with the mission of advancing genomics-based newborn screening. This is a joint effort between academia and industry. Can you tell our audience how this initiative came to be?
2. Sequencing 100,000 newborns in NYC is a significant goal, and other institutions are undertaking similar activities such as Genomics England where Dr. David Bick (who was featured on our podcast) will be leading. What efforts are being undertaken to share information and strategies on best practices for disseminating sequencing information to families, clinicians, and researchers?
3. Hu, you are a parent of two children with a rare disorder called Mucopolysaccharidosis II (MPS II or Hunter syndrome). Your first child was diagnosed with the condition around the age of 3.5 years old. Can you tell us how you found out about the diagnosis and what happened next?
4. At the age of 12 months, your second child was diagnosed before the disease was evident due to his older sibling’s findings. Can you share the clinical outcomes and any differences in the two siblings?
5. Could you share your process in caregiving to your child with Hunter Syndrome? Any advice for new parents?
6. Before your child was diagnosed with Hunter Syndrome, were you aware of NBS?
7. NBS for Hunter syndrome is now added to the recommended uniform screening panel (also known as RUSP) and you were a part of these efforts. Can you describe this journey of adding a condition to the RUSP? Do you have any advice for other families on the nomination process?
8. What do you think prospective parents should know about newborn screening research?
9. You are currently on the Steering Committee and the Chair of the Researcher Needs Workgroup at NBSTRN; what efforts do you see NBSTRN can support in NBS Research and your efforts in the GUARDIAN project?
10. What does NBS research mean to you?